Neurodegenerative disorder characterized by dwarfism,
gargoyle facies, myoclonic seizures, progressive neurologic dysfunction
(dementia and ataxia), and macular cherry-red spots.
Deficiency of Cathepsin; Goldberg Syndrome; Neuraminidase
Deficiency with Beta-Galactosidase Deficiency;
Neuraminidase/Beta-Galactosidase Expression (NGBE); PPCA Deficiency;
Beta-Galactosidase Protective Protein Deficiency.
Inborn error of metabolism. Lysosomal storage disease
belonging to the group of progressive myoclonus epilepsies.
Approximately 70 cases have been described worldwide.
The majority of patients are of Japanese origin.
Autosomal recessive. The gene is mapped to
chromosome 20q13.1. Predominance in populations of Japanese origin. Equal
distribution between males and females.
Lysosomal storage disease associated with combined
deficiency of beta-galactosidase and neuraminidase. Deficiency of a protein
(cathepsin) that is essential for the catalytic activity of
alpha-N-acetyl-neuraminidase and normally protects beta-galactosidase from
degradation. Accumulation of sialyloligosaccharides and sialylglycopeptides
in lymphocytes, fibroblasts, bone marrow cells, Kupffer cells, and Schwann
Combined enzyme deficiency demonstrable in lymphocytes
or cultured skin fibroblasts. Sialyloligosaccharides/ sialylglycopeptides are
detected by (1) light microscopy as periodic acid-Schiff-positive
inclusions (vacuolations) within cells throughout the body and (2) thin
layer chromatography in urine. Prenatal diagnosis is available (deficiency of
alpha-N-acetylneuraminidase and beta-galactosidase activities in cultured
chorionic villi or amniocytes).
In all forms, coarsened facial features,
vertebral anomalies, and often bilateral macular cherry-red
spots result in progressive loss of vision. Infantile form presents with fetal hydrops,
or with death from renal and cardiac failure in infancy. Late infantile form has better
prognosis. Hepatosplenomegaly and valvular heart disease are common in this
form. The majority of patients have juvenile/adult form of
galactosialidosis. Features include spinal deformities, myoclonus, ataxia,
seizures, mental retardation, and hearing loss.
Assess neurologic status (myoclonus
and seizures), cardiac status (may have cardiac failure or valvular
heart disease), airway (potentially difficult tracheal intubation), and renal
Anesthetic management has not been
described but depends upon systemic manifestations of the disease. In the
more common juvenile/adult form, attention should be directed toward
potential airway anomalies and skeletal deformities. The presence of renal
or cardiac dysfunction requires appropriate precautions in infantile forms.
The association with myoclonic seizures and anesthetic medications
potentially able to trigger seizure must be avoided.
Agents that might precipitate
seizures, such as ketamine, enflurane, and methohexital, should be avoided.
Seizure medications should be continued until the day of surgery when an
intravenous anticonvulsant should be administered. Antibiotic prophylaxis as
indicated in case of cardiopathy.
Sialidosis: Lysosomal storage disease caused by a deficiency of
the enzyme alpha-neuraminidase resulting in tissue accumulation of
mucopolysaccharides and mucolipids, resulting in the development (usually in
the second decade) of red macules in the eyes, myoclonus, mild seizures,
Hurler-like facies, skeletal dysplasia, psychomotor retardation, and normal
excretion of urinary mucopolysaccharides. Autosomal recessive; gene map
locus is 6p21.
Gangliosidosis (GM1) Type I: Autosomal recessive
lysosomal storage disease characterized by coarse facies and progressive
neurodegeneration caused ...